Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.53035752C>A , CM000669.2:g.53035752C>A | GRCh38 |
| NC_000007.13:g.53103445C>A , CM000669.1:g.53103445C>A | GRCh37 |
| NC_000007.12:g.53070939C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_182595.4:c.81C>A MANE Select | NP_872401.3:p.Asp27Glu |
| ENST00000408890.6:c.81C>A MANE Select | ENSP00000386133.3:p.Asp27Glu |
| NM_182595.3:c.81C>A | NP_872401.3:p.Asp27Glu |
| ENST00000408890.5:c.81C>A | ENSP00000386133.3:p.Asp27Glu |